Resultados de procura - Irina Giurgea

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  1. 1
    Mowat-Wilson syndrome: neurological and molecular study in seven patients

    Mowat-Wilson syndrome: neurological and molecular study in seven patients por José Albino da Paz, Chong Ae Kim, Michael Goossens, Irina Giurgea, Maria Joaquina Marques‐Dias

    Publicado 2015
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  2. 2
    Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

    Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders por Julie Mollet, Irina Giurgea, Dimitri Schlemmer, Gustav Dallner, Dominique Chrétien, Agnés Delahodde, Delphine Bacq, Pascale de Lonlay, Arnold Münnich, Agnès Rötig

    Publicado 2007
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  3. 3
    Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

    Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion por M. Mar González‐Barroso, Irina Giurgea, Frédéric Bouillaud, Andrea Anedda, Christine Bellanné‐Chantelot, Laurence Hubert, Yves de Keyzer, Pascale de Lonlay, Daniel Ricquier

    Publicado 2008
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  4. 4
    Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages

    Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages por Claire Jumeau, Fawaz Awad, Eman Assrawi, Laetitia Cobret, Philippe Duquesnoy, Irina Giurgea, Dominique Valeyre, Gilles Grateau, Serge Amselem, Jean‐François Bernaudin, Sonia‐Athina Karabina

    Publicado 2019
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  5. 5
    Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

    Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy por Paule Bénit, Réjane Beugnot, Dominique Chrétien, Irina Giurgea, Pascale de Lonlay-Debeney, Jean‐Paul Issartel, Marisol Corral‐Debrinski, Stefan Kerscher, Pierre Rustin, Agnès Rötig, Arnold Münnich

    Publicado 2003
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  6. 6
    Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

    Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation por Fawaz Awad, Eman Assrawi, Claire Jumeau, Sophie Georgin‐Lavialle, Laetitia Cobret, Philippe Duquesnoy, William Piterboth, Lucie Thomas, Katia Stankovic‐Stojanovic, Camille Louvrier, Irina Giurgea, Gilles Grateau, Serge Amselem, Sonia‐Athina Karabina

    Publicado 2017
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  7. 7
    Congenital Hyperinsulinism: Pancreatic [<sup>18</sup>F]Fluoro-<scp>l</scp>-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion

    Congenital Hyperinsulinism: Pancreatic [<sup>18</sup>F]Fluoro-<scp>l</scp>-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarbo... por Pascale de Lonlay, Aurore Simon-Carré, Maria-João Ribeiro, Nathalie Boddaert, Irina Giurgea, Kathleen Laborde, Christine Bellanné‐Chantelot, Virginie Verkarre, Michel Polak, Jacques Rahier, André Syrota, David Seidenwurm, Claire Nihoul‐Feketé, Jean‐Jacques Robert, Françis Brunelle, Francis Jaubert

    Publicado 2006
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  8. 8
    NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

    NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations por Camille Louvrier, Eman Assrawi, Elma El Khouri, Isabelle Melki, Bruno Copin, E. Bourrat, Noémie Lachaume, B. Cador-Rousseau, Philippe Duquesnoy, William Piterboth, Fawaz Awad, Claire Jumeau, Marie Legendre, Gilles Grateau, Sophie Georgin‐Lavialle, Sonia Karabina, Serge Amselem, Irina Giurgea

    Publicado 2019
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  9. 9
    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 por Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attié‐Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Echaieb Anis, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Véronique Pingault

    Publicado 2007
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  10. 10
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome por Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Publicado 2008
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  11. 11
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes por Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    Publicado 2018
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  12. 12
    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects por Emma Hilton, Jennifer J. Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro NISHIO, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony T. Moore, David Fitzpatrick, Johannes R. Lemke, Florence Fellmann, François‐Guillaume Debray, Florence Dastot-Le-Moal, Marion Gérard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloès, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly N. Hay, Kim Jenny, Kathreen Johnston, Michael J. Lyons, John W. Belmont, Leslie G. Biesecker, Irina Giurgea, Graeme Black

    Publicado 2009
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  13. 13
    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement por Marcella Zollino, Christiane Zweier, Ingrid D. Van Balkom, David A. Sweetser, Joseph T. Alaimo, Emilia K. Bijlsma, Jannine D. Cody, Sarah H. Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Śmigiel, Ronald L. Thibert, Ingrid Benoist, Jill Clayton‐Smith, C.F. de Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar R. J. Kempink, Frea H. Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie A. Menke, Paul A. Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol Saunders, Agnieszka Stembalska, Hans van Balkom, Sandra Whalen, Raoul C. M. Hennekam

    Publicado 2019
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